Related gene-specific medical variations for Gene (Select 200424) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360522	NM_001287491.2(TET3):c.4475T>C (p.Leu1492Pro)	TET3 (L1399P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360349	NM_001287491.2(TET3):c.4421C>T (p.Ser1474Phe)	TET3 (S1381F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360200	NM_001287491.2(TET3):c.3833A>G (p.Lys1278Arg)	TET3 (K1185R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359490	NM_001287491.2(TET3):c.3879C>A (p.Asn1293Lys)	TET3 (N1200K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359415	NM_001287491.2(TET3):c.2876G>T (p.Gly959Val)	TET3 (G866V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247489	NC_000002.11:g.(?_74307117)_(74307868_?)del	TET3	Deletion	not provided	GPathogenic
Select item 3236648	NM_001287491.2(TET3):c.2059_2062dup (p.Pro688fs)	TET3 (P595fs +1 more)	Duplication (frameshift variant)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3236615	NM_001287491.2(TET3):c.3019G>A (p.Ala1007Thr)	TET3 (A1007T +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3065622	NM_001287491.2(TET3):c.2500A>G (p.Ile834Val)	TET3 (I699V +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3065062	NM_001287491.2(TET3):c.5318C>G (p.Thr1773Arg)	TET3 (T1638R +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3064814	NM_001287491.2(TET3):c.3547A>G (p.Thr1183Ala)	TET3 (T1048A +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 3064113	NM_001287491.2(TET3):c.2684del (p.Ile895fs)	TET3 (I802fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome	GLikely pathogenic
Select item 3040532	NM_001287491.2(TET3):c.304-311G>T	LOC129934104, TET3 (E8*)	Single nucleotide variant (nonsense +1 more)	TET3-related disorder	GUncertain significance
Select item 2584681	NM_001287491.2(TET3):c.1294G>C (p.Glu432Gln)	TET3 (E297Q +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2579152	NM_001287491.2(TET3):c.5051_5054dup (p.His1685fs)	TET3 (H1592fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 2441980	NM_001287491.2(TET3):c.2989C>G (p.Arg997Gly)	TET3 (R862G +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2437046	NM_001287491.2(TET3):c.5062C>T (p.Arg1688Cys)	TET3 (R1553C +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2437045	NM_001287491.2(TET3):c.5320G>T (p.Asp1774Tyr)	TET3 (D1639Y +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 2429805	NM_001287491.2(TET3):c.2755G>A (p.Ala919Thr)	TET3 (A784T +2 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2429414	NM_001287491.2(TET3):c.4441G>T (p.Ala1481Ser)	TET3 (A1346S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803710	NM_001287491.2(TET3):c.5186G>A (p.Arg1729Gln)	TET3 (R1594Q +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1803709	NM_001287491.2(TET3):c.1743G>T (p.Lys581Asn)	TET3 (K446N +2 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1801442	NM_001287491.2(TET3):c.361-13808_361-13807insTTGTGTGTTGGTCGTGTGCGCGCGCCCCCCGCTCCCGCGCGCGATGGCCCAGCGGCTGGCAAGAGGGTGTGTGT	TET3	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1696712	NM_001287491.2(TET3):c.3584C>T (p.Ala1195Val)	TET3 (A1102V +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1696634	NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro)	TET3 (L1088P +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1696630	NM_001287491.2(TET3):c.3040-8C>T	TET3	Single nucleotide variant (intron variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1679635	NM_001287491.2(TET3):c.3604+7G>T	TET3	Single nucleotide variant (intron variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1676568	NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val)	TET3 (L1022V +1 more)	Single nucleotide variant	Beck-Fahrner syndrome	GLikely pathogenic
Select item 1342392	NM_001287491.2(TET3):c.3966C>G (p.His1322Gln)	TET3 (H1229Q +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1341929	NM_001287491.2(TET3):c.-425+1G>T	TET3	Single nucleotide variant (splice donor variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 1098696	NM_001287491.2(TET3):c.881T>C (p.Val294Ala)	TET3 (V201A +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome	GUncertain significance
Select item 992781	NM_001287491.2(TET3):c.1874G>A (p.Arg625Gln)	TET3 (R532Q +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 992780	NM_001287491.2(TET3):c.1502C>T (p.Pro501Leu)	TET3 (P408L +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 898379	NM_212552.3(BOLA3):c.*134T>C	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337054	NM_212552.3(BOLA3):c.*190G>A	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance

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Items: 35